Familial Aggregation and Segregation Analysis of Snoring and Symptoms of Obstructive Sleep Apnea

Abstract

To investigate possible modes of inheritance that would explain familial aggregation in obstructive sleep apnea (OSA), familial correlation and segregation analyses were performed on data derived from 584 pedigrees with 2019 cases enrolled in the Tucson Epidemiologic Study of Obstructive Airways Disease (TESOAD) who were at least 10 years of age and who had information pertaining to snoring and daytime sleepiness. Data were obtained from the 9th (May 1984 to October 1985) and 12th (February 1990 to October 1992) surveys of the TESOAD, which is a random, stratified sample of the non-Hispanic Caucasian population of Tucson, Arizona. A snoring phenotype was considered present if it occurred on at least some nights. A "sleep apnea" phenotype was constructed if participants snored and experienced daytime sleepiness. Familial correlations for snoring showed significant mother-child and sibling correlations but not father-child correlations. For sleep apnea, significant parent-daughter but not parent-son or sibling correlations were observed. Segregation analyses for snoring with regressive familial effects and sibling, age, and obesity covariates showed no evidence for mendelian transmission. However, additional familial effects were present that suggested phenotype aggregation from polygenic or environmental factors, or both. For the sleep apnea phenotype, similar segregation analyses indicated that mendelian dominant or codominant models were possible. However, the analyses also suggested that a nongenetic model fit the data as well. In addition, consistent with the familial correlations, specific maternal- and sibling-related effects remained even after inclusion of age, gender, and obesity covariates. These data support the concept that inheritable or shared environmental factors contribute to the development of OSA and that maternal components may be more important than paternal ones.

Familial aggregation of sleep disorders – a questionnaire based study

“…Segregation analyses for snoring with regressive familial effects and siblings, age and obesity covariates showed no evidence of Mendelian transmission. This study reported a significant increase of familial insomnia, warranting further genetic studies in primary insomnia with early age at onset 18 .…”

“…In the analysis of the TESOAD (Tuson epidemiologic study of obstructive airway disease) study by Holberg et al, familial correlations for snoring showed significant mother-child and sibling correlations but not father-child correlations 18 . For sleep apnea, significant parentdaughter but not parent-son or sibling correlations were observed.…”

Genetics of sleep disordered breathing (syndromes excluded)

“…Holberg 9 . They focused on two phenomena: isolated snoring, and snoring associated with daytime somnolence as proxy for obstructive sleep apnea/ hypopnea syndrome (OSAHS).…”

Genetic Aspects of the Obstructive Sleep Apnoea–Hypopnoea Syndrome. Genetische Aspekte des obstruktiven Schlafapnoe-Hypopnoe-Syndroms

“…Twin studies have found greater concordance for snoring among monozygotic twins compared to dizygotic twins [16]. Familial aggregation and segregation analysis of snoring and symptoms of OSAHS applied to 584 pedigrees with 2 019 cases enrolled in the Tucson Epidemiologic Study of Obstructive Airways Disease demonstrated Mendelian dominant or co‐dominant transmission [17]. However, this analysis also found that a nongenetic model would fit the data equally well, suggesting that environmental factors probably contribute to the development of OSAHS.…”